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N. Yamada, Y. Horikawa, J. Takeda, S. Kishi; Molecular Scanning of the HIF1A Gene in the Patients With Proliferative Diabetic Retinopathy . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3994.
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Purpose: Type2 diabetes is a multifactorial inheritance disease. VEGF plays a crucial role in proliferative diabetic retinopathy (PDR), an end-organ symptom of the disease, and hypoxia inducible factor-1alpha (HIF1A) is a VEGF transcription activating factor. We have compared single nucleotide polymorphisms (SNPs) of the HIF1A gene protein coding region in patients with PDR and normal subjects. Methods: We genotyped all exons of the HIF1A gene in 88 patients with PDR and in 96 control subjects using direct sequence method. Results: Six SNPs were identified in the HIF1A gene. Three were cSNPs (coding SNPs) and three were iSNPs (intron SNPs). The three cSNPs were Ser28Tyr (SNP1), Pro582Ser (SNP2), and Ala588Thr (SNP3). SNP1, SNP2, and SNP3 were found in two, six, and fifteen patients, respectively. The frequencies of these polymorphisms were similar in patients and control subjects. SNP1 was located in the Basic-Helix-Loop-Helix domain of exon 2, and SNP 2 and 3 were located in the transactivation inhibitory domain that includes exon 12. Patients with the SNP 3 variant more frequently require treatment with insulin than those without the variant. Conclusions:Three genetic variations were identified in the HIF1A gene. Two of the three are located in the transactivation inhibitory domain of HIF1A, but there is no significant difference in the frequencies of these polymorphisms between PDR patients and normal controls.
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